A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566702



Internal ID18767778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138537922..138538301hg38UCSC Ensembl
Outerchr5:138537889..138538329hg38UCSC Ensembl
Innerchr5:137873611..137873990hg19UCSC Ensembl
Outerchr5:137873578..137874018hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765449
Samples
Known GenesETF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566702
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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